PTRH2 peptidyl-tRNA hydrolase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTRH2provided by HGNC
Official Full Name: peptidyl-tRNA hydrolase 2provided by HGNC
Primary source: HGNC:HGNC:24265
See related: Ensembl:ENSG00000141378 MIM:608625; AllianceGenome:HGNC:24265
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PTH; BIT1; PTH2; PTH 2; CFAP37; IMNEPD; CGI-147
Summary: The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Expression: Ubiquitous expression in adrenal (RPKM 4.1), testis (RPKM 3.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (59697308..59707430, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (60566060..60576360, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (57774669..57784791, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.
Title: PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.
Bit1 is involved in regulation between integrin and TGFbeta signaling in lens epithelial cells.
Title: Bit1 is involved in regulation between integrin and TGFβ signaling in lens epithelial cells.
We report three brothers born to consanguineous parents of Syrian descent, with a homozygous novel c.324G>A (p.W108*) mutation in PTRH2 that encodes peptidyl-tRNA hydrolase 2, causing infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Title: Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.
Bit1 may serve as a novel regulator of astrocyte biological behaviors interplaying with vascular endothelial cell during retinal development.
Title: Bit1-a novel regulator of astrocyte function during retinal development: proliferation, migration, and paracrine effects on vascular endothelial cell.
studies indicate Bit1 is an inhibitor of EMT and metastasis in lung cancer and hence can serve as a molecular target in curbing lung cancer aggressiveness
Title: The Anoikis Effector Bit1 Inhibits EMT through Attenuation of TLE1-Mediated Repression of E-Cadherin in Lung Cancer Cells.
These collective findings indicate that loss of Bit1 expression contributes to the acquisition of malignant phenotype of human lung epithelial cells via Erk activation-induced suppression of E-cadherin expression.
Title: Downregulation of Bit1 expression promotes growth, anoikis resistance, and transformation of immortalized human bronchial epithelial cells via Erk activation-dependent suppression of E-cadherin.
This study reports on five infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation.
Title: Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy in three sisters from a consanguineous family.
Title: Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Bcl-2 expression patterns in various differentiated esophageal squamous cell carcinoma were higher than those in corresponding normal esophageal tissues with no statistical differences ( p > 0.05). Importantly, Bit1 expression was positively correlated with both matrix metalloproteinase 2 and Bcl-2 expression in esophageal squamous cell carcinoma and esophageal adenocarcinoma tissues ( p < 0.05).
Title: Preliminary evaluation for Bit1 as a potential biomarker for squamous cell carcinoma and adenocarcinoma of esophagus.
Our data establishes a PTRH2 mutation as a novel driver of congenital muscle degeneration and identifies a potential novel target to treat muscle myopathies.
Title: PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MedGen: C4015728 OMIM: 616263 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S2149 (e-PCR)
- UniSTS:860

WI-20523 (e-PCR)
- UniSTS:52060

RH93739 (e-PCR)
- UniSTS:89968

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminoacyl-tRNA hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminoacyl-tRNA hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of anoikis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of anoikis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of anoikis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of anoikis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	HDA more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: peptidyl-tRNA hydrolase 2, mitochondrial

Names: bcl-2 inhibitor of transcription 1; cilia and flagella associated protein 37

NP_001015509.1

EC 3.1.1.29

NP_057161.1

EC 3.1.1.29

XP_011523189.1

EC 3.1.1.29

XP_054172388.1

EC 3.1.1.29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042064.1 RefSeqGene

Range

5169..15291

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001015509.3 → NP_001015509.1 peptidyl-tRNA hydrolase 2, mitochondrial isoform a

See identical proteins and their annotated locations for NP_001015509.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

BC017457, DA092491

Consensus CDS

CCDS77076.1

UniProtKB/TrEMBL

J3KQ48, Q96ME4

Related

ENSP00000387180.2, ENST00000409433.2

Conserved Domains (1) summary

cd02430
Location:66 → 180

PTH2; Peptidyl-tRNA hydrolase, type 2 (PTH2). Peptidyl-tRNA hydrolase (PTH) activity releases tRNA from the premature translation termination product peptidyl-tRNA, therefore allowing the tRNA and peptide to be reused in protein synthesis. PTH2 is present in ...
NM_016077.5 → NP_057161.1 peptidyl-tRNA hydrolase 2, mitochondrial isoform b precursor

See identical proteins and their annotated locations for NP_057161.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform b which is one amino acid shorter at the N-terminus compared to isoform a.

Source sequence(s)

AF151905, DA092491

Consensus CDS

CCDS11618.1

UniProtKB/Swiss-Prot

B3KUY4, Q9NTE5, Q9Y3E5

UniProtKB/TrEMBL

Q96ME4

Related

ENSP00000376758.2, ENST00000393038.3

Conserved Domains (1) summary

cd02430
Location:65 → 179

PTH2; Peptidyl-tRNA hydrolase, type 2 (PTH2). Peptidyl-tRNA hydrolase (PTH) activity releases tRNA from the premature translation termination product peptidyl-tRNA, therefore allowing the tRNA and peptide to be reused in protein synthesis. PTH2 is present in ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

59697308..59707430 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524887.3 → XP_011523189.1 peptidyl-tRNA hydrolase 2, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011523189.1

UniProtKB/Swiss-Prot

B3KUY4, Q9NTE5, Q9Y3E5

UniProtKB/TrEMBL

Q96ME4

Related

ENSP00000464327.1, ENST00000470557.2

Conserved Domains (1) summary

cd02430
Location:65 → 179

PTH2; Peptidyl-tRNA hydrolase, type 2 (PTH2). Peptidyl-tRNA hydrolase (PTH) activity releases tRNA from the premature translation termination product peptidyl-tRNA, therefore allowing the tRNA and peptide to be reused in protein synthesis. PTH2 is present in ...

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

60566060..60576360 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316413.1 → XP_054172388.1 peptidyl-tRNA hydrolase 2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

B3KUY4, Q9NTE5, Q9Y3E5

UniProtKB/TrEMBL

Q96ME4